Hutchin T P, Heath P R, Pearson R C, Sinclair A J
Academic Department of Geriatric Medicine, University of Birmingham, Selly Oak Hospital, United Kingdom.
Biochem Biophys Res Commun. 1997 Dec 18;241(2):221-5. doi: 10.1006/bbrc.1997.7793.
Several reports have indicated that point mutations of the mitochondrial DNA (mtDNA) contribute to the pathogenesis of Alzheimer's disease (AD). However, other groups have failed to find similar associations between these mutations and AD. A recent report described a set of mutations in the mtDNA encoded cytochrome oxidase genes which may account for 20% of all AD cases. We screened brain tissue from 65 AD patients for each of these previously reported mtDNA mutations but were unable to find an increased incidence of any of them in our AD sample. However, one patient with a mutation in the APP gene did harbour a novel mtDNA mutation (G to C at position 5705 in the tRNAAsn gene) that might have contributed to the very early onset of dementia in this individual. The role of mtDNA mutations in the pathogenesis of AD remains unclear, but they do not appear to be primary causes but may contribute to the onset of the disease.
几份报告指出，线粒体DNA（mtDNA）的点突变与阿尔茨海默病（AD）的发病机制有关。然而，其他研究小组未能发现这些突变与AD之间存在类似关联。最近一份报告描述了mtDNA编码的细胞色素氧化酶基因中的一组突变，这些突变可能占所有AD病例的20%。我们对65例AD患者的脑组织进行筛查，以寻找之前报道的每种mtDNA突变，但在我们的AD样本中未发现任何一种突变的发生率增加。然而，一名APP基因突变的患者确实存在一种新的mtDNA突变（tRNAAsn基因第5705位的G到C），这可能导致了该个体痴呆症的极早发病。mtDNA突变在AD发病机制中的作用仍不清楚，但它们似乎不是主要原因，但可能促成疾病的发作。
